Article
Alteration of splice site selection in the LMNA gene and inhibition of progerin production via AMPK activation.
Medical hypotheses - 1 Nov 2014
Finley Jahahreeh
Abstract excerpt
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by an accelerated aging phenotype and an average life span of 13years. Patients typically exhibit extensive pathophysiological vascular alterations, eventually resulting in death from stroke or myocardial infarction. A silent point mutation at position 1824 (C1824T) of the LMNA gene, generating a truncated form of lamin A...
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